Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 2 | 237367151 | missense variant | C/T | snv |
|
0.800 | 0 | ||||||||||||
|
1.000 | 0.160 | 2 | 237381419 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 2 | 237344571 | missense variant | T/C | snv | 6.1E-04 | 5.6E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 2 | 237359334 | splice acceptor variant | TTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCAC/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 2 | 237377222 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 2 | 237359238 | inframe deletion | CCT/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 2 | 237381113 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 2 | 237395121 | stop gained | G/A | snv | 4.4E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 2 | 237395121 | stop gained | G/A | snv | 4.4E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 2 | 237395121 | stop gained | G/A | snv | 4.4E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 2 | 237361120 | splice donor variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 2 | 237372173 | missense variant | C/T | snv | 2.0E-04 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 2 | 237372173 | missense variant | C/T | snv | 2.0E-04 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 2 | 237372173 | missense variant | C/T | snv | 2.0E-04 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 2 | 237377336 | stop gained | G/A | snv | 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 237348645 | missense variant | C/T | snv | 6.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 2 | 237342163 | splice acceptor variant | T/- | del | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 2 | 237342163 | splice acceptor variant | T/- | del | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 2 | 237342163 | splice acceptor variant | T/- | del | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 237371896 | missense variant | T/A | snv | 1.0E-04 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 2 | 237334890 | splice acceptor variant | C/G | snv | 1.6E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 2 | 237363366 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 2 | 237359390 | splice acceptor variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 2 | 237359390 | splice acceptor variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 2 | 237359390 | splice acceptor variant | T/G | snv |
|
0.700 | 0 |